Canonical Allele Identifier: CA369863390

Gene: KCNH2

Linked Data

• dbSNP Id: rs1420527867
• gnomAD v2: 7-150655527-G-C
• gnomAD v4: 7-150958439-G-C
• MyVariant Identifiers: chr7:g.150655527G>C (hg19) ; chr7:g.150958439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958439G>C , CM000669.2:g.150958439G>C	GRCh38
NC_000007.13:g.150655527G>C , CM000669.1:g.150655527G>C	GRCh37
NC_000007.12:g.150286460G>C	NCBI36
NG_008916.1:g.24488C>G , LRG_288:g.24488C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1369C>G
ENST00000262186.10:c.536C>G MANE Select	ENSP00000262186.5:p.Ser179Trp
ENST00000262186.9:c.536C>G	ENSP00000262186.5:p.Ser179Trp
ENST00000430723.4:c.235-47C>G	ENSP00000387657.4:n.235-47C>G
ENST00000532957.5:n.759C>G
NM_000238.3:c.536C>G , LRG_288t1:c.536C>G	NP_000229.1:p.Ser179Trp
NM_172056.2:c.536C>G , LRG_288t2:c.536C>G	NP_742053.1:p.Ser179Trp
XM_011516185.1:c.236C>G	XP_011514487.1:p.Ser79Trp
XM_011516186.1:c.536C>G	XP_011514488.1:p.Ser179Trp
XM_011516185.2:c.236C>G	XP_011514487.1:p.Ser79Trp
XM_011516186.3:c.536C>G	XP_011514488.1:p.Ser179Trp
XM_017012195.1:c.386C>G	XP_016867684.1:p.Ser129Trp
XM_017012196.1:c.359C>G	XP_016867685.1:p.Ser120Trp
NM_000238.4:c.536C>G MANE Select	NP_000229.1:p.Ser179Trp